Page 197 - A Magyar Szemorvostársaság 2023. évi kongresszusa - Tudományos program és előadáskivonatok

Objective: Coats-like retinitis pigmentosa was observed in a young patient. The aim of this
presentation is to summarize the features of the disease, the course of the investigation, and
possible treatment options.

Material and Methods: The case of a 12-year-old male patient is followed from the first
appearance to the end of treatment.

Results: The patient presented to our paediatric ophthalmology clinic with bilateral visual
impairment. He presented with a history of retinitis pigmentosa in his maternal grandmother,
which was confirmed in both of them by electrophysiological and genetic testing. Genetic
analysis confirmed the pathogenic variant c.2405_2406del, p.(Glu802Glyfs*32) in the RPGR
gene in hemizygous form in the male patient and in heterozygous form in the grandmother,
who was thus considered a symptomatic carrier. Our patient presented with 0.5/0.2 best
corrected Snellen visual acuity, on ophthalmoscopic examination with marked optic disk
swelling and macular edema in the fundus, characteristic bone spicule-like pigmentary
changes on the midperiphery, and a 10 papillary subretinal swelling in the left inferotemporal
quadrant with telangiectatic vessels on the surface. Fluorescein angiography (FLAG)
examination showed an extensive area of hypoperfusion, teleangiectatic vessels and indented
vessels in addition to marked papillary and macular oedema. In addition to Ar laser
photocoagulation, systemic acetazolamide and topical dorzolamid, nepafenak,
dexamethasone and antiglaucoma therapy were applied. As a result of the therapy, the visual
acuity improved to 0.9/0.8, papilledema was significantly reduced, and macular edema was no
longer detectable. A repeated FLAG examination did not show any abnormal permeable
vessels in the area treated with laser, and a scar occured in the place of the former exudate.

Conclusion: In patients with RP, the rare occurence of exudative vitreoretinopathy increases
the risk of blindness and early detection of this rare condition is essential. Timely intervention
can prevent early and additional vision loss in patients with RP.